A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946485



Internal ID9989390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50300930..50301478hg38UCSC Ensembl
Outerchr20:48917467..48918015hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722497
Supporting Variants
SamplesSSM003
Known GenesLOC284751
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6946485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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